Atlas of Genetics and Cytogenetics in Oncology and Haematology

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PFKP (phosphofructokinase, platelet)

Identity

Alias (NCBI)ATP-PFK
PFK-C
PFK-P
PFKF
HGNC (Hugo) PFKP
HGNC Alias symbPFK-C
PFKF
HGNC Alias namePhosphofructokinase, platelet type
LocusID (NCBI) 5214
Atlas_Id 46673
Location 10p15.2  [Link to chromosome band 10p15]
Location_base_pair Starts at 3067548 and ends at 3136802 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)		Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
ADARB2 (10p15.3) / PFKP (10p15.2)DDX5 (17q23.3) / PFKP (10p15.2)LYPLA1 (8q11.23) / PFKP (10p15.2)
MARK1 (1q41) / PFKP (10p15.2)PFKP (10p15.2) / PABPC4 (1p34.3)PFKP (10p15.2) / PSG1 (19q13.2)
PFKP (10p15.2) / STRAP (12p12.3)TG (8q24.22) / PFKP (10p15.2)DDX5 17q23.3 / PFKP 10p15.2
PFKP 10p15.2 / PSG1 19q13.2

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 

External links

 

Nomenclature
HGNC (Hugo)PFKP   8878
Cards
Entrez_Gene (NCBI)PFKP    phosphofructokinase, platelet
AliasesATP-PFK; PFK-C; PFK-P; PFKF
GeneCards (Weizmann)PFKP
Ensembl hg19 (Hinxton)ENSG00000067057 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000067057 [Gene_View]  ENSG00000067057 [Sequence]  chr10:3067548-3136802 [Contig_View]  PFKP [Vega]
ICGC DataPortalENSG00000067057
TCGA cBioPortalPFKP
AceView (NCBI)PFKP
Genatlas (Paris)PFKP
SOURCE (Princeton)PFKP
Genetics Home Reference (NIH)PFKP
Genomic and cartography
GoldenPath hg38 (UCSC)PFKP  -     chr10:3067548-3136802 +  10p15.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)PFKP  -     10p15.2   [Description]    (hg19-Feb_2009)
GoldenPathPFKP - 10p15.2 [CytoView hg19]  PFKP - 10p15.2 [CytoView hg38]
ImmunoBaseENSG00000067057
Genome Data Viewer NCBIPFKP [Mapview hg19]  
OMIM171840   
Gene and transcription
Genbank (Entrez)AA622586 AK092597 AK097692 AK126153 AK128373
RefSeq transcript (Entrez)NM_001242339 NM_001323067 NM_001323068 NM_001323069 NM_001323070 NM_001323071 NM_001323072 NM_001323073 NM_001323074 NM_001345944 NM_002627
Consensus coding sequences : CCDS (NCBI)PFKP
Gene ExpressionPFKP [ NCBI-GEO ]   PFKP [ EBI - ARRAY_EXPRESS ]   PFKP [ SEEK ]   PFKP [ MEM ]
Gene Expression Viewer (FireBrowse)PFKP [ Firebrowse - Broad ]
GenevisibleExpression of PFKP in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)5214
GTEX Portal (Tissue expression)PFKP
Human Protein AtlasENSG00000067057-PFKP [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ01813   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ01813  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ01813
PhosPhoSitePlusQ01813
Domaine pattern : Prosite (Expaxy)PHOSPHOFRUCTOKINASE (PS00433)   
Domains : Interpro (EBI)6-Pfructokinase_euk    ATP_PFK    PFK_vert-type    Phosphofructokinase_CS    Phosphofructokinase_dom    PKF_sf   
Domain families : Pfam (Sanger)PFK (PF00365)   
Domain families : Pfam (NCBI)pfam00365   
Conserved Domain (NCBI)PFKP
PDB (RSDB)4RH3    4U1R    4WL0    4XYJ    4XYK    4XZ2   
PDB Europe4RH3    4U1R    4WL0    4XYJ    4XYK    4XZ2   
PDB (PDBSum)4RH3    4U1R    4WL0    4XYJ    4XYK    4XZ2   
PDB (IMB)4RH3    4U1R    4WL0    4XYJ    4XYK    4XZ2   
Structural Biology KnowledgeBase4RH3    4U1R    4WL0    4XYJ    4XYK    4XZ2   
SCOP (Structural Classification of Proteins)4RH3    4U1R    4WL0    4XYJ    4XYK    4XZ2   
CATH (Classification of proteins structures)4RH3    4U1R    4WL0    4XYJ    4XYK    4XZ2   
SuperfamilyQ01813
AlphaFold pdb e-kbQ01813   
Human Protein Atlas [tissue]ENSG00000067057-PFKP [tissue]
HPRD01384
Protein Interaction databases
DIP (DOE-UCLA)Q01813
IntAct (EBI)Q01813
BioGRIDPFKP
STRING (EMBL)PFKP
ZODIACPFKP
Ontologies - Pathways
QuickGOQ01813
Ontology : AmiGO6-phosphofructokinase activity  6-phosphofructokinase activity  6-phosphofructokinase activity  protein binding  ATP binding  nucleus  cytoplasm  cytosol  6-phosphofructokinase complex  fructose 6-phosphate metabolic process  membrane  membrane  AMP binding  fructose 1,6-bisphosphate metabolic process  identical protein binding  protein-containing complex binding  cadherin binding  metal ion binding  monosaccharide binding  canonical glycolysis  canonical glycolysis  extracellular exosome  fructose-6-phosphate binding  cellular response to leukemia inhibitory factor  
Ontology : EGO-EBI6-phosphofructokinase activity  6-phosphofructokinase activity  6-phosphofructokinase activity  protein binding  ATP binding  nucleus  cytoplasm  cytosol  6-phosphofructokinase complex  fructose 6-phosphate metabolic process  membrane  membrane  AMP binding  fructose 1,6-bisphosphate metabolic process  identical protein binding  protein-containing complex binding  cadherin binding  metal ion binding  monosaccharide binding  canonical glycolysis  canonical glycolysis  extracellular exosome  fructose-6-phosphate binding  cellular response to leukemia inhibitory factor  
Pathways : BIOCARTAPhosphoinositides and their downstream targets. [Genes]   
Pathways : KEGGGlycolysis / Gluconeogenesis    Pentose phosphate pathway    Fructose and mannose metabolism    Galactose metabolism    Thyroid hormone signaling pathway   
NDEx NetworkPFKP
Atlas of Cancer Signalling NetworkPFKP
Wikipedia pathwaysPFKP
Orthology - Evolution
OrthoDB5214
GeneTree (enSembl)ENSG00000067057
Phylogenetic Trees/Animal Genes : TreeFamPFKP
Homologs : HomoloGenePFKP
Homology/Alignments : Family Browser (UCSC)PFKP
Gene fusions - Rearrangements
Fusion : MitelmanDDX5/PFKP [17q23.3/10p15.2]  
Fusion : MitelmanPFKP/PSG1 [10p15.2/19q13.2]  
Fusion : QuiverPFKP
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPFKP [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PFKP
dbVarPFKP
ClinVarPFKP
MonarchPFKP
1000_GenomesPFKP 
Exome Variant ServerPFKP
GNOMAD BrowserENSG00000067057
Varsome BrowserPFKP
ACMGPFKP variants
VarityQ01813
Genomic Variants (DGV)PFKP [DGVbeta]
DECIPHERPFKP [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisPFKP 
Mutations
ICGC Data PortalPFKP 
TCGA Data PortalPFKP 
Broad Tumor PortalPFKP
OASIS PortalPFKP [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICPFKP  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DPFKP
Mutations and Diseases : HGMDPFKP
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaPFKP
DgiDB (Drug Gene Interaction Database)PFKP
DoCM (Curated mutations)PFKP
CIViC (Clinical Interpretations of Variants in Cancer)PFKP
Cancer3DPFKP
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM171840   
Orphanet
DisGeNETPFKP
MedgenPFKP
Genetic Testing Registry PFKP
NextProtQ01813 [Medical]
GENETestsPFKP
Target ValidationPFKP
Huge Navigator PFKP [HugePedia]
ClinGenPFKP
Clinical trials, drugs, therapy
MyCancerGenomePFKP
Protein Interactions : CTDPFKP
Pharm GKB GenePA33217
PharosQ01813
Clinical trialPFKP
Miscellaneous
canSAR (ICR)PFKP
HarmonizomePFKP
DataMed IndexPFKP
Probes
Litterature
PubMed140 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXPFKP
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Oct 4 15:24:59 CEST 2021
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